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Juvenile neuronal ceroid lipofuscinosis

MedGen UID:
978346
•Concept ID:
CN293564
•
Disease or Syndrome
Synonyms: Batten disease; Vogt Spielmeyer disease
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Related genes: PPT1, CLN8, CLN3, TPP1
 
Monarch Initiative: MONDO:0019262
Orphanet: ORPHA79264

Definition

Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities. [from ORDO]

Professional guidelines

PubMed

Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease).
Adams HR, Beck CA, Levy E, Jordan R, Kwon JM, Marshall FJ, Vierhile A, Augustine EF, de Blieck EA, Pearce DA, Mink JW
Dev Med Child Neurol 2010 Jul;52(7):637-43. Epub 2010 Feb 19 doi: 10.1111/j.1469-8749.2010.03628.x. PMID: 20187884Free PMC Article
A favorable response to antiparkinsonian treatment in juvenile neuronal ceroid lipofuscinosis.
Aberg LE, Rinne JO, Rajantie I, Santavuori P
Neurology 2001 May 8;56(9):1236-9. doi: 10.1212/wnl.56.9.1236. PMID: 11342698
Early juvenile neuronal ceroid-lipofuscinosis or variant Jansky-Bielschowsky disease: diagnostic criteria and nomenclature.
Santavuori P, Rapola J, Raininko R, Autti T, Lappi M, Nuutila A, Launes J, Sainio K
J Inherit Metab Dis 1993;16(2):230-2. doi: 10.1007/BF00710251. PMID: 8411967

Recent clinical studies

Etiology

Paroxysmal sympathetic hyperactivity in Juvenile neuronal ceroid lipofuscinosis (Batten disease).
Ostergaard JR
Auton Neurosci 2018 Nov;214:15-18. Epub 2018 Jul 29 doi: 10.1016/j.autneu.2018.07.003. PMID: 30072301
Neurobehavioral features and natural history of juvenile neuronal ceroid lipofuscinosis (Batten disease).
Adams HR, Mink JW; University of Rochester Batten Center Study Group
J Child Neurol 2013 Sep;28(9):1128-36. doi: 10.1177/0883073813494813. PMID: 24014508Free PMC Article
Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease).
Hawkins-Salsbury JA, Cooper JD, Sands MS
Biochim Biophys Acta 2013 Nov;1832(11):1906-9. Epub 2013 Jun 6 doi: 10.1016/j.bbadis.2013.05.026. PMID: 23747979Free PMC Article
Juvenile neuronal ceroid-lipofuscinosis (Batten disease): a brief review and update.
Rakheja D, Narayan SB, Bennett MJ
Curr Mol Med 2007 Sep;7(6):603-8. doi: 10.2174/156652407781695729. PMID: 17896996
The neuronal ceroid-lipofuscinoses.
Goebel HH
J Child Neurol 1995 Nov;10(6):424-37. doi: 10.1177/088307389501000602. PMID: 8576551

Diagnosis

Epileptological aspects of juvenile neuronal ceroid lipofuscinosis (CLN3 disease) through the lifespan.
Arntsen V, Strandheim J, Helland IB, Sand T, Brodtkorb E
Epilepsy Behav 2019 May;94:59-64. Epub 2019 Mar 16 doi: 10.1016/j.yebeh.2019.02.020. PMID: 30884409
Cataract and glaucoma development in juvenile neuronal ceroid lipofuscinosis (batten disease).
Nielsen AK, Drack AV, Ostergaard JR
Ophthalmic Genet 2015 Mar;36(1):39-42. Epub 2014 Nov 3 doi: 10.3109/13816810.2014.977492. PMID: 25365415
Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease).
Hawkins-Salsbury JA, Cooper JD, Sands MS
Biochim Biophys Acta 2013 Nov;1832(11):1906-9. Epub 2013 Jun 6 doi: 10.1016/j.bbadis.2013.05.026. PMID: 23747979Free PMC Article
Juvenile neuronal ceroid lipofuscinosis (JNCL) and the eye.
Bozorg S, Ramirez-Montealegre D, Chung M, Pearce DA
Surv Ophthalmol 2009 Jul-Aug;54(4):463-71. doi: 10.1016/j.survophthal.2009.04.007. PMID: 19539834Free PMC Article
The neuronal ceroid-lipofuscinoses.
Goebel HH
J Child Neurol 1995 Nov;10(6):424-37. doi: 10.1177/088307389501000602. PMID: 8576551

Therapy

Brain proton MR spectroscopy measurements in CLN3 disease.
Dang Do AN, Baker EH, Farmer CA, Soldatos AG, Thurm AE, Porter FD
Mol Genet Metab 2023 May;139(1):107584. Epub 2023 Apr 15 doi: 10.1016/j.ymgme.2023.107584. PMID: 37086568Free PMC Article
Juvenile NCL (CLN3 Disease): Emerging Disease-Modifying Therapeutic Strategies.
Augustine EF, Mink JW
Pediatr Endocrinol Rev 2016 Jun;13 Suppl 1:655-62. PMID: 27491213
Hippocampal volumes in juvenile neuronal ceroid lipofuscinosis: a longitudinal magnetic resonance imaging study.
Tokola AM, Salli EK, Åberg LE, Autti TH
Pediatr Neurol 2014 Feb;50(2):158-63. Epub 2013 Oct 30 doi: 10.1016/j.pediatrneurol.2013.10.013. PMID: 24411222
New antidepressive and antipsychotic drugs in juvenile neuronal ceroid lipofuscinoses--a pilot study.
Bäckman ML, Aberg LE, Aronen ET, Santavuori PR
Eur J Paediatr Neurol 2001;5 Suppl A:163-6. doi: 10.1053/ejpn.2000.0455. PMID: 11588990
Epilepsy and antiepileptic drug therapy in juvenile neuronal ceroid lipofuscinosis.
Aberg LE, Bäckman M, Kirveskari E, Santavuori P
Epilepsia 2000 Oct;41(10):1296-302. doi: 10.1111/j.1528-1157.2000.tb04608.x. PMID: 11051125

Prognosis

Neurobehavioral features and natural history of juvenile neuronal ceroid lipofuscinosis (Batten disease).
Adams HR, Mink JW; University of Rochester Batten Center Study Group
J Child Neurol 2013 Sep;28(9):1128-36. doi: 10.1177/0883073813494813. PMID: 24014508Free PMC Article
Microglia in juvenile neuronal ceroid lipofuscinosis are primed toward a pro-inflammatory phenotype.
Xiong J, Kielian T
J Neurochem 2013 Oct;127(2):245-58. Epub 2013 Aug 22 doi: 10.1111/jnc.12385. PMID: 23919525
Juvenile neuronal ceroid lipofuscinosis and education.
von Tetzchner S, Fosse P, Elmerskog B
Biochim Biophys Acta 2013 Nov;1832(11):1894-905. Epub 2013 Mar 5 doi: 10.1016/j.bbadis.2013.02.017. PMID: 23470553
Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease).
Ostergaard JR, Rasmussen TB, Mølgaard H
Neurology 2011 Apr 5;76(14):1245-51. doi: 10.1212/WNL.0b013e31821435bd. PMID: 21464428
Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil.
Valadares ER, Pizarro MX, Oliveira LR, Amorim RH, Pinheiro TM, Grieben U, Santos HH, Queiroz RR, Lopes Gde C, Godard AL
Arq Neuropsiquiatr 2011 Feb;69(1):13-8. doi: 10.1590/s0004-282x2011000100004. PMID: 21359416

Clinical prediction guides

Brain proton MR spectroscopy measurements in CLN3 disease.
Dang Do AN, Baker EH, Farmer CA, Soldatos AG, Thurm AE, Porter FD
Mol Genet Metab 2023 May;139(1):107584. Epub 2023 Apr 15 doi: 10.1016/j.ymgme.2023.107584. PMID: 37086568Free PMC Article
Converging roles of PSENEN/PEN2 and CLN3 in the autophagy-lysosome system.
Klein M, Kaleem A, Oetjen S, Wünkhaus D, Binkle L, Schilling S, Gjorgjieva M, Scholz R, Gruber-Schoffnegger D, Storch S, Kins S, Drewes G, Hoffmeister-Ullerich S, Kuhl D, Hermey G
Autophagy 2022 Sep;18(9):2068-2085. Epub 2021 Dec 29 doi: 10.1080/15548627.2021.2016232. PMID: 34964690Free PMC Article
Epileptological aspects of juvenile neuronal ceroid lipofuscinosis (CLN3 disease) through the lifespan.
Arntsen V, Strandheim J, Helland IB, Sand T, Brodtkorb E
Epilepsy Behav 2019 May;94:59-64. Epub 2019 Mar 16 doi: 10.1016/j.yebeh.2019.02.020. PMID: 30884409
Microglia in juvenile neuronal ceroid lipofuscinosis are primed toward a pro-inflammatory phenotype.
Xiong J, Kielian T
J Neurochem 2013 Oct;127(2):245-58. Epub 2013 Aug 22 doi: 10.1111/jnc.12385. PMID: 23919525
Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil.
Valadares ER, Pizarro MX, Oliveira LR, Amorim RH, Pinheiro TM, Grieben U, Santos HH, Queiroz RR, Lopes Gde C, Godard AL
Arq Neuropsiquiatr 2011 Feb;69(1):13-8. doi: 10.1590/s0004-282x2011000100004. PMID: 21359416

Recent systematic reviews

Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation.
Chen ZR, Liu DT, Meng H, Liu L, Bian WJ, Liu XR, Zhu WW, He Y, Wang J, Tang B, Su T, Yi YH
Seizure 2019 Jul;69:180-185. Epub 2018 Sep 2 doi: 10.1016/j.seizure.2018.08.027. PMID: 31059981

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